MFS
MCID: MRF001
MIFTS: 85

Marfan Syndrome (MFS) malady

Genetic diseases, Rare diseases, Eye diseases, Cardiovascular diseases, Bone diseases, Fetal diseases categories
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Summaries for Marfan Syndrome

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MedlinePlus:33 Marfan syndrome is a disorder that affects connective tissue. connective tissues are proteins that support skin, bones, blood vessels, and other organs. one of these proteins is fibrillin. a problem with the fibrillin gene causes marfan syndrome. marfan syndrome can be mild to severe, and the symptoms can vary. people with marfan syndrome are often very tall, thin, and loose jointed. most people with marfan syndrome have heart and blood vessel problems, such as a weakness in the aorta or heart valves that leak. they may also have problems with their bones, eyes, skin, nervous system, and lungs. there is no single test to diagnose marfan syndrome. your doctor may use your medical history, family history, and a physical exam to diagnose it. marfan syndrome has no cure, but treatments can help delay or prevent complications. treatments include medicines, surgery, and other therapies. nih: national institute of arthritis and musculoskeletal and skin diseases

MalaCards based summary: Marfan Syndrome, also known as marfan's syndrome, is related to aortic disease and aortic aneurysm, and has symptoms including long limbs/dolichostenomelia, long hand/arachnodactyly and flat foot. An important gene associated with Marfan Syndrome is FBN1 (fibrillin 1), and among its related pathways are Validated transcriptional targets of AP1 family members Fra1 and Fra2 and Cytokine production by Th17 cells in CF. The compounds taad and orcein have been mentioned in the context of this disorder. Affiliated tissues include heart, bone and eye, and related mouse phenotypes are integument and homeostasis/metabolism.

Genetics Home Reference:21 Marfan syndrome is a disorder that affects the connective tissue in many parts of the body. Connective tissue provides strength and flexibility to structures such as bones, ligaments, muscles, blood vessels, and heart valves. The signs and symptoms of Marfan syndrome vary widely in severity, timing of onset, and rate of progression.

NIH Rare Diseases:42 Marfan syndrome is a disorder of the connective tissue. connective tissue provides strength and flexibility to structures throughout the body such as bones, ligaments, muscles, walls of blood vessels, and heart valves. marfan syndrome affects most organs and tissues, especially the skeleton, lungs, eyes, heart, and the large blood vessel that distributes blood from the heart to the rest of the body (the aorta). last updated: 2/25/2011

Wikipedia:65 Marfan syndrome (also called Marfan\'s syndrome) is a genetic disorder of human connective tissue. It... more...

Descriptions from OMIM:46 154700,610168

GeneReviews summary for marfan

Aliases & Classifications for Marfan Syndrome

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Sources:
8Disease Ontology, 9diseasecard, 65Wikipedia, 19GeneReviews, 42NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 46OMIM, 10DISEASES, 44Novoseek, 48Orphanet, 33MedlinePlus, 62UMLS, 39NCIt, 27ICD9CM, 57SNOMED-CT, 34MeSH, 26ICD10 via Orphanet, 63UMLS via Orphanet, 35MESH via Orphanet, 25ICD10
See all sources

Marfan Syndrome, Aliases & Descriptions:

Name: Marfan Syndrome 8 9 65 19 42 21 46 10 44 48 33 62
Marfan's Syndrome 8 20 22 21
Arachnodactyly 65 44 62
Mfs 65 21 48
 
Marfan Syndrome Type 1 42 48
Marfanoid Hypermobility Syndrome 62
Contractural Arachnodactyly 42
Mfs1 48


Classifications:



Characteristics (Orphanet epidemiological data):

48
marfan syndrome:
Inheritance: Autosomal dominant; Prevalence: 1-5/10000; Age of onset: Variable; Age of death: Any age
marfan syndrome type 1:
Inheritance: Autosomal dominant; Age of onset: Variable; Age of death: Any age


External Ids:

Disease Ontology8 DOID:14323
NCIt39 C34807
ICD9CM27 759.82
MeSH34 D008382
ICD10 via Orphanet26 Q87.4
UMLS via Orphanet63 C0024796
MESH via Orphanet35 D008382
ICD1025 Q87.4

Related Diseases for Marfan Syndrome

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Diseases related to Marfan Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 294)
idRelated DiseaseScoreTop Affiliating Genes
1aortic disease31.5FBN1
2aortic aneurysm31.4FBN1, TGFBR1, TGFBR2
3congenital contractural arachnodactyly31.1FBN2
4thoracic aortic aneurysm30.9ELN, TGFBR2, FBN1
5mitral valve prolapse30.9FBN2, FBN1
6loeys-dietz syndrome30.9FBN1, TGFBR1, TGFBR2
7aneurysm30.7FBN2, FBN1, TGFBR2, LOX, ELN
8pseudoxanthoma elasticum30.6FBN1, ELN
9weill-marchesani syndrome30.4FBN1, LTBP2
10osteogenesis imperfecta30.3COL1A2, DCN
11hyperhomocysteinemia30.2FBN1, ELN
12abdominal aortic aneurysm30.2ELN, FBN1, DCN
13glomerulosclerosis30.0DCN, COL1A2
14cutis laxa30.0FBN1, LOX, ELN
15mental retardation29.9FBN1, TGFBR2, ELN
16congenital heart disease29.9FBN1, ELN, DCN
17vascular disease29.8ELN, LOX, DCN, TGFBR1
18atherosclerosis29.6ELN, LOX, DCN, FBN1
19connective tissue disease29.0FBN2, FBN1, TGFBR2, LOX, ELN, COL1A2
20neonatal marfan syndrome10.8
21myelofibrosis10.4
22homocysteinemia10.4ELN
23mycosis fungoides10.4
24meningocele10.4
25bullous keratopathy10.4DCN, FBN1
26subclavian artery aneurysm10.3
27intracranial hypotension10.3
28periodontitis10.3
29pneumothorax10.3
30polycythemia vera10.3
31polycythemia10.3
32essential thrombocythemia10.3
33thoracic aortic aneurysms and aortic dissections10.3TGFBR1, TGFBR2
34occipital horn syndrome10.3LOX
35pulmonary emphysema10.3
36schizophrenia10.3
37down syndrome10.3
38lens subluxation10.3
39congenital contractures10.3
40dissecting aortic aneurysm10.3
41supravalvular aortic stenosis10.3FBN1, ELN
42exfoliation syndrome10.3ELN, FBN1
43williams syndrome10.2FBN1, ELN
44hypertension10.2
45takayasu's arteritis10.2
46polycystic kidney disease10.2
47kidney disease10.2
48mitral valve disease10.2
49loeys-dietz syndrome, type 210.2
50endotheliitis10.2

Graphical network of the top 20 diseases related to Marfan Syndrome:



Diseases related to marfan syndrome

Symptoms for Marfan Syndrome

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Symptoms by clinical synopsis from OMIM:

154700

Clinical features from OMIM:

154700,610168

Symptoms:

48 (show all 48)
  • long limbs/dolichostenomelia
  • long hand/arachnodactyly
  • flat foot
  • striae
  • aortic root dilatation/dilation/aneurysm
  • hypotonia
  • muscle hypotrophy/atrophy/dystrophy/agenesis/amyotrophy
  • autosomal dominant inheritance
  • tall stature/gigantism/growth acceleration
  • marfanoid morphotype
  • asthenia/fatigue/weakness
  • narrow face
  • flat cheek bones/malar hypoplasia
  • dental malocclusion
  • visual loss/blindness/amblyopia
  • myopia
  • high vaulted/narrow palate
  • pectus excavatum
  • scoliosis
  • coxa profunda/acetabular protrusion
  • arterial aneurism (excluding aorta)
  • dural ectasia/
  • sleep and vigilance disorders
  • articular/joint pain/arthralgia
  • hyperextensible joints/articular hyperlaxity
  • wasted (excluding lipodystrophy)/poorly muscled build/cachexy
  • dolichocephaly/scaphocephaly
  • micrognathia/retrognathia/micrognathism/retrognathism
  • glaucoma
  • flat cornea
  • lens dislocation/luxation/subluxation/ectopia lentis
  • retinal detachment
  • cleft palate without cleft lip/submucosal cleft palate/bifid uvula
  • abnormal dentition/dental position/implantation/unerupted/dental ankylosis
  • kyphosis
  • inguinal/inguinoscrotal/crural hernia
  • thoracic/chest pain
  • aortic valve anomaly/incompetence/insufficiency/regurgitation/bicuspid
  • endocardium anomalies/fibroelastosis/endocarditis
  • aortic dissection
  • heart/cardiac failure
  • arterial rupture
  • meningocele
  • hyperactivity/attention deficit
  • myalgia/muscular pain
  • osteoporosis/osteopenia/demineralisation/osteomalacia/rickets
  • restricted joint mobility/joint stiffness/ankylosis
  • sprain/twisted joint

HPO human phenotypes related to Marfan Syndrome:

(show all 93)
id Description Frequency HPO Source Accession
1 striae distensae hallmark (90%) HP:0001065
2 arachnodactyly hallmark (90%) HP:0001166
3 muscular hypotonia hallmark (90%) HP:0001252
4 disproportionate tall stature hallmark (90%) HP:0001519
5 pes planus hallmark (90%) HP:0001763
6 amyotrophy hallmark (90%) HP:0003202
7 dilatation of the ascending aorta hallmark (90%) HP:0005111
8 narrow face typical (50%) HP:0000275
9 visual impairment typical (50%) HP:0000505
10 myopia typical (50%) HP:0000545
11 dental malocclusion typical (50%) HP:0000689
12 pectus excavatum typical (50%) HP:0000767
13 joint hypermobility typical (50%) HP:0001382
14 sleep disturbance typical (50%) HP:0002360
15 aneurysm typical (50%) HP:0002617
16 scoliosis typical (50%) HP:0002650
17 arthralgia typical (50%) HP:0002829
18 protrusio acetabuli typical (50%) HP:0003179
19 decreased body weight typical (50%) HP:0004325
20 cheekbone underdevelopment typical (50%) HP:0010669
21 dural ectasia typical (50%) HP:0100775
22 cleft palate occasional (7.5%) HP:0000175
23 dolichocephaly occasional (7.5%) HP:0000268
24 micrognathia occasional (7.5%) HP:0000347
25 glaucoma occasional (7.5%) HP:0000501
26 retinal detachment occasional (7.5%) HP:0000541
27 ectopia lentis occasional (7.5%) HP:0001083
28 limitation of joint mobility occasional (7.5%) HP:0001376
29 congestive heart failure occasional (7.5%) HP:0001635
30 abnormality of the aortic valve occasional (7.5%) HP:0001646
31 meningocele occasional (7.5%) HP:0002435
32 aortic dissection occasional (7.5%) HP:0002647
33 kyphosis occasional (7.5%) HP:0002808
34 myalgia occasional (7.5%) HP:0003326
35 hernia of the abdominal wall occasional (7.5%) HP:0004299
36 abnormality of the endocardium occasional (7.5%) HP:0004306
37 reduced bone mineral density occasional (7.5%) HP:0004349
38 arterial dissection occasional (7.5%) HP:0005294
39 attention deficit hyperactivity disorder occasional (7.5%) HP:0007018
40 flat cornea occasional (7.5%) HP:0007720
41 chest pain occasional (7.5%) HP:0100749
42 autosomal dominant inheritance HP:0000006
43 tall stature HP:0000098
44 narrow palate HP:0000189
45 high palate HP:0000218
46 dolichocephaly HP:0000268
47 malar flattening HP:0000272
48 narrow face HP:0000275
49 long face HP:0000276
50 retrognathia HP:0000278
51 micrognathia HP:0000347
52 deeply set eye HP:0000490
53 downslanted palpebral fissures HP:0000494
54 glaucoma HP:0000501
55 cataract HP:0000518
56 retinal detachment HP:0000541
57 myopia HP:0000545
58 dental crowding HP:0000678
59 pectus excavatum HP:0000767
60 pectus carinatum HP:0000768
61 decreased subcutaneous fat HP:0001002
62 striae distensae HP:0001065
63 ectopia lentis HP:0001083
64 arachnodactyly HP:0001166
65 flexion contracture HP:0001371
66 joint hypermobility HP:0001382
67 overgrowth HP:0001548
68 mitral valve prolapse HP:0001634
69 congestive heart failure HP:0001635
70 mitral regurgitation HP:0001653
71 aortic regurgitation HP:0001659
72 tricuspid valve prolapse HP:0001704
73 pes cavus HP:0001761
74 pes planus HP:0001763
75 hammertoe HP:0001765
76 emphysema HP:0002097
77 pneumothorax HP:0002107
78 aortic root dilatation HP:0002616
79 ascending aortic aneurysm HP:0002631
80 aortic dissection HP:0002647
81 kyphoscoliosis HP:0002751
82 genu recurvatum HP:0002816
83 premature osteoarthritis HP:0003088
84 protrusio acetabuli HP:0003179
85 decreased muscle mass HP:0003199
86 spondylolisthesis HP:0003302
87 incisional hernia HP:0004872
88 pulmonary artery dilatation HP:0004927
89 premature calcification of mitral annulus HP:0005136
90 hypoplasia of the iris HP:0007676
91 increased axial globe length HP:0007800
92 medial rotation of the medial malleolus HP:0008132
93 dural ectasia HP:0100775

Drugs & Therapeutics for Marfan Syndrome

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Drug clinical trials:

Search ClinicalTrials for Marfan Syndrome

Search NIH Clinical Center for Marfan Syndrome

Genetic Tests for Marfan Syndrome

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Genetic tests related to Marfan Syndrome:

id Genetic test Affiliating Genes
1 Marfan Syndrome20 FBN1
2 Marfan's Syndrome22

Anatomical Context for Marfan Syndrome

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MalaCards organs/tissues related to Marfan Syndrome:

32
Heart, Bone, Eye, Lung, Skin, Testes, Spinal cord, Smooth muscle, Kidney, Endothelial, Spleen, Colon, Thyroid, Placenta, Neutrophil

Animal Models for Marfan Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Marfan Syndrome:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00107718.2COL1A2, LOX, DCN, FBN1, TGFBR1
2MP:00053767.7FBN1, DCN, TGFBR2, LOX, ELN, TGFBR1
3MP:00053867.6FBN2, FBN1, DCN, TGFBR2, LOX, COL1A2
4MP:00053847.6TGFBR2, FBN2, FBN1, DCN, COL1A2, TGFBR1
5MP:00053787.3TGFBR1, FBN2, DCN, FBN1, TGFBR2, COL1A2
6MP:00053907.1ELN, TGFBR2, TGFBR1, DCN, FBN1, FBN2
7MP:00053887.1FBN1, DCN, TGFBR1, TGFBR2, LOX, ELN
8MP:00053856.9TGFBR2, COL1A2, TGFBR1, FBN1, FBN2, ELN
9MP:00053696.6FBN2, FBN1, COL1A2, DCN, TGFBR1, TGFBR2
10MP:00107686.3COL1A2, FBN2, LTBP2, ELN, LOX, TGFBR2

Publications for Marfan Syndrome

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Articles related to Marfan Syndrome:

(show top 50)    (show all 748)
idTitleAuthorsYear
1
Regional changes in elastic fiber organization and transforming growth factor I^ signaling in aortas from a mouse model of marfan syndrome. (25238995)
2014
2
The prevalence of bronchiectasis in patients with Marfan syndrome. (25199019)
2014
3
Retrospective analysis of the effect of angiotensin II receptor blocker versus I^-blocker on aortic root growth in paediatric patients with Marfan syndrome. (24270746)
2014
4
Angiotensin receptor blockers: a panacea for Marfan syndrome and related disorders? (25281853)
2014
5
MRI-assessed regional pulse wave velocity for predicting absence of regional aorta luminal growth in marfan syndrome. (23000269)
2013
6
Down syndrome masked by Marfan syndrome in a neonate. (23483062)
2013
7
Antagonism of GxxPG fragments ameliorates manifestations of aortic disease in Marfan syndrome mice. (23100322)
2013
8
The Kid-Short Marfan Score (Kid-SMS) - an easy executable risk score for suspected paediatric patients with Marfan syndrome. (23110520)
2013
9
Endovascular treatment for type B dissection in Marfan syndrome: is it worthwhile? (23273625)
2013
10
Marfan syndrome: a review of the literature and case report. (23980558)
2013
11
First report of the genetic background of Marfan syndrome in two Polish patients. (24162367)
2013
12
Marfan syndrome with spontaneous rupture of aneurysm of common iliac artery. (23778730)
2013
13
Outcomes after valve-preserving root surgery for patients with Marfan syndrome. (23167226)
2012
14
Novel FBN1 mutation causes Marfan syndrome with bilateral ectopia lentis and refractory glaucoma. (22034023)
2012
15
Dissecting aortic aneurysm with Marfan syndrome. (21317477)
2011
16
Echocardiographic findings in children with Marfan syndrome. (21161115)
2011
17
Comparison of the background, needs, and expectations for genetic counseling of adults with experience with Down syndrome, Marfan syndrome, and neurofibromatosis. (21344640)
2011
18
Comparison of aortic dissection in Chinese patients with and without Marfan syndrome. (21273360)
2011
19
Surgical management of aortic root disease in Marfan syndrome: a systematic review and meta-analysis. (21228428)
2011
20
The Marfan syndrome - features, natural history and treatment options - our experiences. (21617273)
2011
21
Critical appraisal of the revised Ghent criteria for diagnosis of Marfan syndrome. (21332468)
2011
22
Effectiveness of combination of losartan potassium and doxycycline versus single-drug treatments in the secondary prevention of thoracic aortic aneurysm in Marfan syndrome. (20189193)
2010
23
Large pulmonary artery aneurysm associated with Marfan syndrome. (22477577)
2010
24
Aortic valve sparing procedure combined with sternal turnover for Marfan syndrome. (20678110)
2010
25
Screening of FBN1 gene mutations in a family with Marfan syndrome]. (21211293)
2010
26
Marfan syndrome and schizophrenia: a case report and literature review. (20303004)
2010
27
Outcomes of iris-claw anterior chamber versus iris-fixated foldable intraocular lens in subluxated lens secondary to Marfan syndrome. (20466427)
2010
28
Frequency of sleep apnea in adults with the Marfan syndrome. (20538140)
2010
29
May TGFBR1 act also as low penetrance allele in Marfan syndrome? (17936924)
2009
30
Characteristics in phenotypic manifestations of genetically proved Marfan syndrome in a Japanese population. (19361604)
2009
31
Increased prevalence of migraine in Marfan syndrome. (18678417)
2009
32
Marfan syndrome: a study of a Nigerian family and review of current cardiovascular management. (19662746)
2009
33
Chest pain in Marfan syndrome. (21686816)
2009
34
Bilateral radial artery aneurysms in the anatomical snuff box seen in marfan syndrome patient: case report and literature review. (23555380)
2009
35
An FBN1 pseudoexon mutation in a patient with Marfan syndrome: confirmation of cryptic mutations leading to disease. (18795226)
2008
36
Fatal aortic dissection in a patient with a family history of Marfan syndrome. (18669769)
2008
37
Search for correlations between FBN1 genotype and complete Ghent phenotype in 44 unrelated Norwegian patients with Marfan syndrome. (17663468)
2007
38
Effect of perindopril on large artery stiffness and aortic root diameter in patients with Marfan syndrome: a randomized controlled trial. (17911499)
2007
39
Identification and in silico analyses of novel TGFBR1 and TGFBR2 mutations in Marfan syndrome-related disorders. (16791849)
2006
40
Cardiac transplantation in neonatal Marfan syndrome -- a life-saving approach. (15704038)
2005
41
Task Force 4: HCM and other cardiomyopathies, mitral valve prolapse, myocarditis, and Marfan syndrome. (15837284)
2005
42
Plain radiography of the lumbosacral spine in Marfan syndrome. (14589463)
2002
43
Popliteal pterygium associated with neonatal Marfan syndrome: case report. (11446416)
2001
44
Allelic frequencies of FBN1 gene polymorphisms and genetic analysis of italian families with Marfan syndrome. (10686496)
2000
45
Acute mitral regurgitation due to chordal rupture in a patient with neonatal Marfan syndrome caused by a deletion in exon 29 of the FBN1 gene. (10441700)
1999
46
A novel mutation in the neonatal region of the fibrillin (FBN) 1 gene associated with a classical phenotype of Marfan syndrome (MfS). (10694921)
1998
47
Fibulin-2: genetic mapping and exclusion as a candidate gene in Marfan syndrome type 2. (8946175)
1996
48
Mutations in the human gene for fibrillin-1 (FBN1) in the Marfan syndrome and related disorders. (8541880)
1995
49
Fibrillin abnormalities and prognosis in Marfan syndrome and related disorders. (8533811)
1995
50
Anterior sacral meningocele and Marfan syndrome: a review. (8470436)
1993

Variations for Marfan Syndrome

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UniProtKB/Swiss-Prot genetic disease variations for Marfan Syndrome:

64 (show all 225)
id Symbol AA change Variation ID SNP ID
1FBN1p.Cys111ArgVAR_002276
2FBN1p.Arg122CysVAR_002277rs137854467
3FBN1p.Cys129TyrVAR_002278
4FBN1p.Cys166PheVAR_002279
5FBN1p.Cys166SerVAR_002280
6FBN1p.Trp217GlyVAR_002281
7FBN1p.Cys476GlyVAR_002282
8FBN1p.Asp490TyrVAR_002283
9FBN1p.Arg545CysVAR_002284
10FBN1p.Asn548IleVAR_002285rs137854462
11FBN1p.Cys587TyrVAR_002286
12FBN1p.Arg627CysVAR_002287
13FBN1p.Cys661ArgVAR_002288
14FBN1p.Ala705ThrVAR_002289
15FBN1p.Cys711TyrVAR_002290
16FBN1p.Asp723AlaVAR_002291rs137854463
17FBN1p.Tyr746CysVAR_002292
18FBN1p.Cys750GlyVAR_002293
19FBN1p.Cys862ArgVAR_002294
20FBN1p.Cys926ArgVAR_002295
21FBN1p.Val984IleVAR_002296
22FBN1p.Cys996ArgVAR_002297rs140592
23FBN1p.Gly1013ArgVAR_002298rs140593
24FBN1p.Lys1023AsnVAR_002299
25FBN1p.Lys1043ArgVAR_002300rs137854472
26FBN1p.Ile1048ThrVAR_002301
27FBN1p.Cys1053ArgVAR_002303
28FBN1p.Cys1055GlyVAR_002304
29FBN1p.Asp1072GlyVAR_002306
30FBN1p.Glu1073LysVAR_002307rs137854478
31FBN1p.Cys1074ArgVAR_002308rs137854465
32FBN1p.Cys1086TrpVAR_002309
33FBN1p.Cys1117GlyVAR_002310
34FBN1p.Cys1117TyrVAR_002311rs137854470
35FBN1p.Asn1131TyrVAR_002313rs137854473
36FBN1p.Arg1137ProVAR_002314rs137854456
37FBN1p.Cys1153TyrVAR_002316rs140599
38FBN1p.Asp1155AsnVAR_002317
39FBN1p.Arg1170HisVAR_002318rs137854475
40FBN1p.Cys1171TrpVAR_002319
41FBN1p.Asn1173LysVAR_002320
42FBN1p.Cys1223TyrVAR_002321rs137854469
43FBN1p.Cys1242TyrVAR_002322rs137854471
44FBN1p.Cys1249SerVAR_002323rs137854458
45FBN1p.Asn1382SerVAR_002324
46FBN1p.Asp1404TyrVAR_002325
47FBN1p.Cys1513ArgVAR_002326
48FBN1p.Cys1589PheVAR_002327
49FBN1p.Cys1610GlyVAR_002328
50FBN1p.Cys1663ArgVAR_002329rs137854459
51FBN1p.Pro1837SerVAR_002330
52FBN1p.Asn1893LysVAR_002331
53FBN1p.Cys1928ArgVAR_002332
54FBN1p.Cys2099TrpVAR_002333
55FBN1p.Cys2111TyrVAR_002334
56FBN1p.Asp2127GluVAR_002335
57FBN1p.Asn2144SerVAR_002336rs137854461
58FBN1p.Cys2151TrpVAR_002337
59FBN1p.Cys2221SerVAR_002338rs137854460
60FBN1p.Cys2258ArgVAR_002339
61FBN1p.Arg2282TrpVAR_002340
62FBN1p.Cys2307SerVAR_002341rs137854457
63FBN1p.Cys2489ArgVAR_002343
64FBN1p.Cys2511ArgVAR_002344
65FBN1p.His2623ProVAR_002345
66FBN1p.Gly2627ArgVAR_002346
67FBN1p.Arg2680CysVAR_002347
68FBN1p.Arg2726TrpVAR_002348rs61746008
69FBN1p.Cys504PheVAR_010776
70FBN1p.Cys1129TyrVAR_010777rs137854482
71FBN1p.Tyr1261CysVAR_010778
72FBN1p.Cys1833SerVAR_010779
73FBN1p.Cys2142TyrVAR_010780
74FBN1p.Arg62CysVAR_017967rs25403
75FBN1p.Cys89PheVAR_017968rs112660651
76FBN1p.Arg114CysVAR_017969
77FBN1p.Cys154SerVAR_017971
78FBN1p.Arg240CysVAR_017972rs137854480
79FBN1p.Trp366CysVAR_017973
80FBN1p.Gly560SerVAR_017974
81FBN1p.Cys570TyrVAR_017975
82FBN1p.Gly592AspVAR_017976
83FBN1p.Cys596TyrVAR_017977
84FBN1p.Cys598TrpVAR_017978
85FBN1p.Cys652SerVAR_017979
86FBN1p.Asp654AsnVAR_017980
87FBN1p.Ser681TyrVAR_017982
88FBN1p.Cys683ArgVAR_017983
89FBN1p.Cys685TrpVAR_017984rs140603
90FBN1p.Asp723ValVAR_017985
91FBN1p.Cys734PheVAR_017986
92FBN1p.Cys748TyrVAR_017987
93FBN1p.Cys776GlyVAR_017988
94FBN1p.Cys776TyrVAR_017989
95FBN1p.Cys781ArgVAR_017990
96FBN1p.Cys816SerVAR_017991
97FBN1p.Cys890ArgVAR_017992
98FBN1p.Cys908ArgVAR_017993
99FBN1p.Glu913GlyVAR_017994
100FBN1p.Cys921GlyVAR_017995
101FBN1p.Gly985ArgVAR_017996
102FBN1p.Cys1044TyrVAR_017997
103FBN1p.Cys1055TrpVAR_017998
104FBN1p.Cys1055TyrVAR_017999
105FBN1p.Tyr1101CysVAR_018000
106FBN1p.Glu1200GlyVAR_018002
107FBN1p.Glu1325GlnVAR_018003
108FBN1p.Ala1337ProVAR_018004
109FBN1p.Cys1339TyrVAR_018005
110FBN1p.Glu1366LysVAR_018006
111FBN1p.Cys1374SerVAR_018007
112FBN1p.Cys1389ArgVAR_018008
113FBN1p.Pro1424AlaVAR_018010
114FBN1p.Cys1429SerVAR_018011
115FBN1p.Cys1564TyrVAR_018013
116FBN1p.Cys1770PheVAR_018015
117FBN1p.Arg1790ProVAR_018016
118FBN1p.Cys1791TyrVAR_018017
119FBN1p.Cys1793TrpVAR_018018
120FBN1p.Gly1796GluVAR_018019
121FBN1p.Cys1806SerVAR_018020
122FBN1p.Cys1835TyrVAR_018021rs111929350
123FBN1p.Ile1909ThrVAR_018022
124FBN1p.Arg1915SerVAR_018023
125FBN1p.Cys1971TyrVAR_018025
126FBN1p.Cys1977TyrVAR_018026
127FBN1p.Cys1998TyrVAR_018027
128FBN1p.Cys2111ArgVAR_018029rs363815
129FBN1p.Cys2221GlyVAR_018031
130FBN1p.Asn2223HisVAR_018032
131FBN1p.Ile2269ThrVAR_018033
132FBN1p.Arg2335TrpVAR_018034
133FBN1p.Cys2406TyrVAR_018036
134FBN1p.Cys2442TrpVAR_018037
135FBN1p.Tyr2474CysVAR_018038
136FBN1p.Cys2581PheVAR_018039
137FBN1p.Ile2585ThrVAR_018040
138FBN1p.Gly2618ArgVAR_018041rs141133182
139FBN1p.Asn2624LysVAR_018042
140FBN1p.Cys2652GlyVAR_018043
141FBN1p.Gly2668CysVAR_018044
142FBN1p.Gly985GluVAR_018319rs137854477
143FBN1p.Cys1265ArgVAR_018320rs137854474
144FBN1p.Tyr20CysVAR_023859
145FBN1p.Cys123TyrVAR_023860
146FBN1p.Cys177ArgVAR_023861rs363853
147FBN1p.Cys224ArgVAR_023862
148FBN1p.Arg439GlyVAR_023863
149FBN1p.Cys541TyrVAR_023865
150FBN1p.Cys628LysVAR_023866
151FBN1p.Tyr635CysVAR_023868
152FBN1p.Arg636IleVAR_023869
153FBN1p.Cys781TyrVAR_023870
154FBN1p.Cys832TyrVAR_023871
155FBN1p.Cys890GlyVAR_023872
156FBN1p.Gly1058AspVAR_023873
157FBN1p.Asp1113ValVAR_023874
158FBN1p.Cys1153SerVAR_023875
159FBN1p.Tyr1219CysVAR_023877
160FBN1p.Tyr1261AspVAR_023878
161FBN1p.Cys1278SerVAR_023879
162FBN1p.Cys1284GlyVAR_023880
163FBN1p.Cys1333SerVAR_023881
164FBN1p.Cys1402ArgVAR_023882
165FBN1p.Pro1424SerVAR_023883
166FBN1p.Gly1475GluVAR_023884
167FBN1p.Gly1475SerVAR_023885
168FBN1p.Cys1564PheVAR_023886
169FBN1p.Met1576ThrVAR_023887
170FBN1p.Cys1631GlyVAR_023888
171FBN1p.Cys1663TyrVAR_023889
172FBN1p.Cys1791ArgVAR_023890
173FBN1p.Cys1806TyrVAR_023891
174FBN1p.Cys1876TyrVAR_023892rs112728248
175FBN1p.Thr1887IleVAR_023893
176FBN1p.Cys1895ArgVAR_023894
177FBN1p.Cys1900TyrVAR_023895
178FBN1p.Cys1928GlyVAR_023896
179FBN1p.Cys1928TyrVAR_023897
180FBN1p.Cys2038TyrVAR_023898rs363804
181FBN1p.Cys2085ArgVAR_023899
182FBN1p.Ala2160ProVAR_023900
183FBN1p.Cys2221PheVAR_023901
184FBN1p.Cys2251ArgVAR_023902rs112836174
185FBN1p.Ala2385ThrVAR_023903
186FBN1p.Cys2500ArgVAR_023904
187FBN1p.Cys2500TyrVAR_023905
188FBN1p.Cys2535TrpVAR_023906rs113544411
189FBN1p.Gly2536ArgVAR_023907
190FBN1p.Glu2570LysVAR_023908
191FBN1p.Cys2571ArgVAR_023909
192FBN1p.Cys2592SerVAR_023910
193FBN1p.Cys2605ArgVAR_023911
194FBN1p.Cys2605TyrVAR_023912
195FBN1p.Tyr2629CysVAR_023914
196FBN1p.Cys2663SerVAR_023915
197FBN1p.Cys1068GlyVAR_064503
198FBN1p.Cys80GlyVAR_065981
199FBN1p.Cys499TyrVAR_065982
200FBN1p.Cys611ArgVAR_065983
201FBN1p.Cys617GlyVAR_065984
202FBN1p.Cys685TyrVAR_065985
203FBN1p.Cys790TyrVAR_065986
204FBN1p.Cys811TyrVAR_065987
205FBN1p.Cys853SerVAR_065988
206FBN1p.Cys926TyrVAR_065989
207FBN1p.Pro1090SerVAR_065990
208FBN1p.Gly1185AspVAR_065991
209FBN1p.Cys1284TyrVAR_065992
210FBN1p.Cys1350PheVAR_065993
211FBN1p.Thr1401AlaVAR_065994
212FBN1p.Cys1431TrpVAR_065995rs112375043
213FBN1p.Cys1431TyrVAR_065996
214FBN1p.Asp1487AlaVAR_065998
215FBN1p.Asn1489LysVAR_065999
216FBN1p.Gly1838CysVAR_066000
217FBN1p.Cys1934SerVAR_066001
218FBN1p.Glu1976GlyVAR_066002
219FBN1p.Cys1984ArgVAR_066003
220FBN1p.Asp2166AsnVAR_066004
221FBN1p.Ile2185ThrVAR_066005
222FBN1p.Asp2247GlyVAR_066006
223FBN1p.Cys2318ArgVAR_066007rs111588631
224FBN1p.Cys2442SerVAR_066008
225FBN1p.Cys2646ArgVAR_066010

Clinvar genetic disease variations for Marfan Syndrome:

6 (show all 205)
id Gene Name Type Significance SNP ID Assembly Location
1LTBP2NM_000428.2(LTBP2): c.1642C> T (p.Arg548Ter)single nucleotide variantPathogenicrs137854855GRCh37Chr 14, 75017811: 75017811
2FBN1NM_000138.4(FBN1): c.385T> G (p.Cys129Gly)single nucleotide variantPathogenicrs199474693GRCh38Chr 15, 48600196: 48600196
3FBN1FBN1, 366-BP DELdeletionPathogenic
4FBN1NM_000138.4(FBN1): c.8268G> A (p.Trp2756Ter)single nucleotide variantPathogenicrs267606796GRCh37Chr 15, 48703535: 48703535
5FBN1NM_000138.4(FBN1): c.3746G> C (p.Cys1249Ser)single nucleotide variantPathogenicrs137854458GRCh37Chr 15, 48776107: 48776107
6FBN1NM_000138.4(FBN1): c.4987T> C (p.Cys1663Arg)single nucleotide variantPathogenicrs137854459GRCh37Chr 15, 48756174: 48756174
7FBN1NM_000138.4(FBN1): c.6662G> C (p.Cys2221Ser)single nucleotide variantPathogenicrs137854460GRCh37Chr 15, 48725140: 48725140
8FBN1NM_000138.4(FBN1): c.3350G> A (p.Cys1117Tyr)single nucleotide variantPathogenicrs137854470GRCh37Chr 15, 48779622: 48779622
9FBN1NM_000138.4(FBN1): c.3725G> A (p.Cys1242Tyr)single nucleotide variantPathogenicrs137854471GRCh37Chr 15, 48776128: 48776128
10FBN1NM_000138.4(FBN1): c.6339T> G (p.Tyr2113Ter)single nucleotide variantPathogenicrs267606797GRCh37Chr 15, 48729559: 48729559
11FBN1NM_000138.4(FBN1): c.6431A> G (p.Asn2144Ser)single nucleotide variantPathogenicrs137854461GRCh37Chr 15, 48729223: 48729223
12FBN1NM_000138.4(FBN1): c.1643A> T (p.Asn548Ile)single nucleotide variantPathogenicrs137854462GRCh37Chr 15, 48802312: 48802312
13FBN1NM_000138.4(FBN1): c.2168A> C (p.Asp723Ala)single nucleotide variantPathogenicrs137854463GRCh37Chr 15, 48789588: 48789588
14FBN1FBN1, 83-BP DELdeletionPathogenic
15FBN1FBN1, IVS54DS, G-C, +1, 123-BP DELdeletionPathogenic
16FBN1NM_000138.4(FBN1): c.8326C> T (p.Arg2776Ter)single nucleotide variantLikely pathogenicrs137854466GRCh37Chr 15, 48703477: 48703477
17FBN1NM_000138.4(FBN1): c.364C> T (p.Arg122Cys)single nucleotide variantPathogenicrs137854467GRCh37Chr 15, 48892414: 48892414
18FBN1NM_000138.4(FBN1): c.3379G> A (p.Gly1127Ser)single nucleotide variantPathogenicrs137854468GRCh37Chr 15, 48779593: 48779593
19FBN1NM_000138.4(FBN1): c.3668G> A (p.Cys1223Tyr)single nucleotide variantPathogenicrs137854469GRCh37Chr 15, 48777615: 48777615
20FBN1NM_000138.4(FBN1): c.8176C> T (p.Arg2726Trp)single nucleotide variantLikely pathogenicrs61746008GRCh37Chr 15, 48704816: 48704816
21FBN1FBN1, 1-BP DEL, 3192AdeletionPathogenic
22FBN1NM_000138.4(FBN1): c.6354C> T (p.Ile2118=)single nucleotide variantLikely pathogenicrs112989722GRCh37Chr 15, 48729544: 48729544
23FBN1NM_000138.4(FBN1): c.3793T> C (p.Cys1265Arg)single nucleotide variantPathogenicrs137854474GRCh37Chr 15, 48776060: 48776060
24FBN1NM_000138.4(FBN1): c.1585C> T (p.Arg529Ter)single nucleotide variantPathogenicrs137854476GRCh37Chr 15, 48805749: 48805749
25FBN1FBN1, IVS2DS, G-A, +1single nucleotide variantPathogenic
26FBN1NM_000138.4(FBN1): c.3037G> C (p.Gly1013Arg)single nucleotide variantPathogenicrs140593GRCh37Chr 15, 48782093: 48782093
27FBN1FBN1, 33-BP INS, IVS46, G-A, +1insertionPathogenic
28FBN1FBN1, IVS46+5G-Asingle nucleotide variantPathogenic
29FBN1NM_000138.4(FBN1): c.2261A> G (p.Tyr754Cys)single nucleotide variantPathogenicrs137854479GRCh37Chr 15, 48789495: 48789495
30FBN1NM_000138.4(FBN1): c.718C> T (p.Arg240Cys)single nucleotide variantPathogenicrs137854480GRCh37Chr 15, 48829826: 48829826
31FBN1NM_000138.4(FBN1): c.3386G> A (p.Cys1129Tyr)single nucleotide variantPathogenicrs137854482GRCh37Chr 15, 48779586: 48779586
32FBN1NM_000138.4(FBN1): c.3662G> A (p.Cys1221Tyr)single nucleotide variantPathogenicrs137854483GRCh37Chr 15, 48777621: 48777621
33FBN1FBN1, 302.5-KB DELdeletionPathogenic
34FBN1NM_000138.4: c.1469-?_6037+?deldeletionPathogenic
35FBN1NM_000138.4(FBN1): c.1211delC (p.Pro404Hisfs)deletionLikely pathogenicrs112289537GRCh37Chr 15, 48808496: 48808496
36FBN1NM_000138.4(FBN1): c.1634G> A (p.Arg545His)single nucleotide variantLikely pathogenicrs193922179GRCh37Chr 15, 48802321: 48802321
37FBN1NM_000138.4(FBN1): c.1669_1677dupTGTAATGCG (p.Ala559_Gly560insCysAsnAla)duplicationLikely pathogenicrs193922181GRCh37Chr 15, 48802278: 48802286
38FBN1NM_000138.4(FBN1): c.1709delG (p.Cys570Leufs)deletionLikely pathogenicrs193922182GRCh37Chr 15, 48802246: 48802246
39FBN1NM_000138.4(FBN1): c.1710T> A (p.Cys570Ter)single nucleotide variantLikely pathogenicrs193922183GRCh37Chr 15, 48802245: 48802245
40FBN1NM_000138.4(FBN1): c.1948C> T (p.Arg650Cys)single nucleotide variantLikely pathogenicrs193922185GRCh37Chr 15, 48797234: 48797234
41FBN1NM_000138.4(FBN1): c.2055C> G (p.Cys685Trp)single nucleotide variantLikely pathogenicrs140603GRCh37Chr 15, 48796042: 48796042
42FBN1NM_000138.4(FBN1): c.2057C> A (p.Ala686Asp)single nucleotide variantLikely pathogenicrs193922186GRCh37Chr 15, 48796040: 48796040
43FBN1NM_000138.4(FBN1): c.2186delT (p.Leu729Glnfs)deletionLikely pathogenicrs193922187GRCh37Chr 15, 48789570: 48789570
44FBN1NM_000138.4(FBN1): c.2369G> C (p.Cys790Ser)single nucleotide variantLikely pathogenicrs193922188GRCh37Chr 15, 48788347: 48788347
45FBN1NM_000138.4(FBN1): c.2433C> A (p.Cys811Ter)single nucleotide variantLikely pathogenicrs193921256GRCh37Chr 15, 48787772: 48787772
46FBN1NM_000138.4(FBN1): c.2479T> C (p.Ser827Pro)single nucleotide variantLikely pathogenicrs193922189GRCh37Chr 15, 48787726: 48787726
47FBN1NM_000138.4(FBN1): c.2508T> A (p.Ser836Arg)single nucleotide variantLikely pathogenicrs193922190GRCh37Chr 15, 48787697: 48787697
48FBN1NM_000138.4(FBN1): c.2542A> C (p.Thr848Pro)single nucleotide variantLikely pathogenicrs193922191GRCh37Chr 15, 48787455: 48787455
49FBN1NM_000138.4(FBN1): c.266G> C (p.Cys89Ser)single nucleotide variantLikely pathogenicrs112660651GRCh37Chr 15, 48903005: 48903005
50FBN1NM_000138.4(FBN1): c.2677G> C (p.Asp893His)single nucleotide variantLikely pathogenicrs193922193GRCh37Chr 15, 48787320: 48787320
51FBN1NM_000138.4(FBN1): c.2682delC (p.Ile895Tyrfs)deletionLikely pathogenicrs193922194GRCh37Chr 15, 48786447: 48786447
52FBN1NM_000138.4(FBN1): c.2855-1G> Csingle nucleotide variantLikely pathogenicrs112202622GRCh37Chr 15, 48782276: 48782276
53FBN1NM_000138.4(FBN1): c.3026C> G (p.Pro1009Arg)single nucleotide variantLikely pathogenicrs148076256GRCh37Chr 15, 48782104: 48782104
54FBN1NM_000138.4(FBN1): c.3140_3141delCC (p.Thr1047Asnfs)deletionLikely pathogenicrs193922197GRCh37Chr 15, 48780632: 48780633
55FBN1NM_000138.4(FBN1): c.3193delG (p.Glu1065Lysfs)deletionLikely pathogenicrs193922198GRCh37Chr 15, 48780580: 48780580
56FBN1NM_000138.4(FBN1): c.3478G> T (p.Glu1160Ter)single nucleotide variantLikely pathogenicrs193922199GRCh37Chr 15, 48779383: 48779383
57FBN1NM_000138.4(FBN1): c.3560A> G (p.His1187Arg)single nucleotide variantLikely pathogenicrs193922200GRCh37Chr 15, 48779301: 48779301
58FBN1NM_000138.4(FBN1): c.4165T> G (p.Cys1389Gly)single nucleotide variantLikely pathogenicrs193922203GRCh37Chr 15, 48766497: 48766497
59FBN1NM_000138.4(FBN1): c.4460-8G> Asingle nucleotide variantLikely pathogenicrs193922204GRCh37Chr 15, 48760739: 48760739
60FBN1NM_000138.4(FBN1): c.4467T> A (p.Asn1489Lys)single nucleotide variantLikely pathogenicrs193922205GRCh37Chr 15, 48760724: 48760724
61FBN1NM_000138.4(FBN1): c.454A> T (p.Ser152Cys)single nucleotide variantLikely pathogenicrs193922206GRCh37Chr 15, 48888564: 48888564
62FBN1NM_000138.4(FBN1): c.4588C> T (p.Arg1530Cys)single nucleotide variantPathogenicrs111401431GRCh37Chr 15, 48760294: 48760294
63FBN1NM_000138.4(FBN1): c.4684T> A (p.Cys1562Ser)single nucleotide variantLikely pathogenicrs193922207GRCh37Chr 15, 48760198: 48760198
64FBN1NM_000138.4(FBN1): c.4786C> T (p.Arg1596Ter)single nucleotide variantPathogenicrs113871094GRCh37Chr 15, 48758017: 48758017
65FBN1NM_000138.4(FBN1): c.484G> A (p.Ala162Thr)single nucleotide variantLikely pathogenicrs193922210GRCh37Chr 15, 48888534: 48888534
66FBN1NM_000138.4(FBN1): c.510C> G (p.Tyr170Ter)single nucleotide variantLikely pathogenicrs111671429GRCh37Chr 15, 48888508: 48888508
67FBN1NM_000138.4(FBN1): c.5521_5528delTTCACCTC (p.Phe1841Hisfs)deletionLikely pathogenicrs193922212GRCh37Chr 15, 48744776: 48744783
68FBN1NM_000138.4(FBN1): c.5552A> G (p.Asn1851Ser)single nucleotide variantLikely pathogenicrs193922214GRCh37Chr 15, 48741084: 48741084
69FBN1NM_000138.4(FBN1): c.556T> C (p.Cys186Arg)single nucleotide variantLikely pathogenicrs193922215GRCh37Chr 15, 48829988: 48829988
70FBN1NM_000138.4(FBN1): c.5671G> C (p.Asp1891His)single nucleotide variantLikely pathogenicrs193922216GRCh37Chr 15, 48740965: 48740965
71FBN1NM_000138.4(FBN1): c.56C> T (p.Ser19Phe)single nucleotide variantLikely pathogenicrs193922218GRCh37Chr 15, 48936911: 48936911
72FBN1NM_000138.4(FBN1): c.6006_6012dupTGGATAC (p.Ser2005Trpfs)duplicationLikely pathogenicrs193922220GRCh37Chr 15, 48736763: 48736769
73FBN1NM_000138.4(FBN1): c.6385G> T (p.Asp2129Tyr)single nucleotide variantLikely pathogenicrs193922223GRCh37Chr 15, 48729269: 48729269
74FBN1NM_000138.4(FBN1): c.649T> G (p.Trp217Gly)single nucleotide variantLikely pathogenicrs193922224GRCh37Chr 15, 48829895: 48829895
75FBN1NM_000138.4(FBN1): c.6553_6556dupATTG (p.Gly2186Aspfs)duplicationLikely pathogenicrs193922225GRCh37Chr 15, 48726851: 48726854
76FBN1NM_000138.4(FBN1): c.6700G> A (p.Val2234Met)single nucleotide variantLikely pathogenicrs112084407GRCh37Chr 15, 48725102: 48725102
77FBN1NM_000138.4(FBN1): c.6704delG (p.Gly2235Aspfs)deletionLikely pathogenicrs193922226GRCh37Chr 15, 48725098: 48725098
78FBN1NM_000138.4(FBN1): c.6793_6800dupTGCAAGAA (p.Leu2268Alafs)duplicationLikely pathogenicrs193922227GRCh37Chr 15, 48722939: 48722946
79FBN1NM_000138.4(FBN1): c.6806T> C (p.Ile2269Thr)single nucleotide variantLikely pathogenicrs193922228GRCh37Chr 15, 48722933: 48722933
80FBN1NM_000138.4(FBN1): c.6970G> A (p.Ala2324Thr)single nucleotide variantLikely pathogenicrs148831709GRCh37Chr 15, 48720570: 48720570
81FBN1NM_000138.4(FBN1): c.7072G> A (p.Val2358Ile)single nucleotide variantLikely pathogenicrs140537304GRCh37Chr 15, 48719896: 48719896
82FBN1NM_000138.4(FBN1): c.7229A> C (p.His2410Pro)single nucleotide variantLikely pathogenicrs193922230GRCh37Chr 15, 48718037: 48718037
83FBN1NM_000138.4(FBN1): c.7412C> G (p.Pro2471Arg)single nucleotide variantLikely pathogenicrs193922233GRCh37Chr 15, 48717607: 48717607
84FBN1NM_000138.4(FBN1): c.7666T> G (p.Phe2556Val)single nucleotide variantLikely pathogenicrs193922234GRCh37Chr 15, 48713788: 48713788
85FBN1NM_000138.4(FBN1): c.7678delC (p.Gln2560Argfs)deletionLikely pathogenicrs193922235GRCh37Chr 15, 48713776: 48713776
86FBN1NM_000138.4(FBN1): c.7726C> T (p.Arg2576Cys)single nucleotide variantLikely pathogenicrs147195031GRCh37Chr 15, 48712977: 48712977
87FBN1NM_000138.4(FBN1): c.7806G> A (p.Trp2602Ter)single nucleotide variantLikely pathogenicrs193922236GRCh37Chr 15, 48712897: 48712897
88FBN1NM_000138.4(FBN1): c.7879G> A (p.Gly2627Arg)single nucleotide variantLikely pathogenicrs193922239GRCh37Chr 15, 48707905: 48707905
89FBN1NM_000138.4(FBN1): c.7898G> C (p.Cys2633Ser)single nucleotide variantLikely pathogenicrs193922240GRCh37Chr 15, 48707886: 48707886
90FBN1NM_000138.4(FBN1): c.7999G> A (p.Glu2667Lys)single nucleotide variantLikely pathogenicrs149062442GRCh37Chr 15, 48707785: 48707785
91FBN1NM_000138.4(FBN1): c.8203delG (p.Glu2735Lysfs)deletionLikely pathogenicrs193922241GRCh37Chr 15, 48704789: 48704789
92FBN1NM_000138.4(FBN1): c.8219A> G (p.Asn2740Ser)single nucleotide variantLikely pathogenicrs193922242GRCh37Chr 15, 48704773: 48704773
93FBN1NM_000138.4(FBN1): c.83A> G (p.Asn28Ser)single nucleotide variantLikely pathogenicrs193922245GRCh37Chr 15, 48936884: 48936884
94FBN1NM_000138.4(FBN1): c.8412_8417delTAAAAT (p.Lys2805_Ile2806del)deletionLikely pathogenicrs193922246GRCh37Chr 15, 48703386: 48703391
95FBN1NM_000138.4(FBN1): c.8155_8156delAA (p.Lys2719Aspfs)deletionPathogenicrs398122831GRCh37Chr 15, 48704836: 48704837
96FBN1NM_000138.4(FBN1): c.8156_8175del20 (p.Lys2719Thrfs)deletionPathogenicrs398122832GRCh37Chr 15, 48704817: 48704836
97FBN1NM_000138.4(FBN1): c.8226+1G> Tsingle nucleotide variantPathogenicrs398122833GRCh37Chr 15, 48704765: 48704765
98FBN1NM_000138.4(FBN1): c.4253_4259delGCCAGTG (p.Gly1418Alafs)deletionPathogenicrs398122934GRCh37Chr 15, 48764825: 48764831
99FBN1NM_000138.4(FBN1): c.1051C> T (p.Gln351Ter)single nucleotide variantPathogenicrs397515753GRCh37Chr 15, 48812952: 48812952
100FBN1NM_000138.4(FBN1): c.1192A> T (p.Arg398Ter)single nucleotide variantPathogenicrs397515754GRCh37Chr 15, 48808515: 48808515
101FBN1NM_000138.4(FBN1): c.1095C> A (p.Cys365Ter)single nucleotide variantLikely pathogenicrs397515755GRCh37Chr 15, 48812908: 48812908
102FBN1NM_000138.4(FBN1): c.1148-2A> Gsingle nucleotide variantPathogenicrs397515756GRCh37Chr 15, 48808561: 48808561
103FBN1NM_000138.4(FBN1): c.1468+5G> Asingle nucleotide variantPathogenicrs397515757GRCh37Chr 15, 48807579: 48807579
104FBN1NM_000138.4(FBN1): c.1546C> T (p.Arg516Ter)single nucleotide variantPathogenicrs113812345GRCh37Chr 15, 48805788: 48805788
105FBN1NM_000138.4(FBN1): c.1561_1562delAG (p.Ser521Hisfs)deletionLikely pathogenicrs397515758GRCh37Chr 15, 48805772: 48805773
106FBN1NM_000138.4(FBN1): c.1601G> A (p.Cys534Tyr)single nucleotide variantLikely pathogenicrs397515759GRCh37Chr 15, 48802354: 48802354
107FBN1NM_000138.4(FBN1): c.1837+1G> Tsingle nucleotide variantLikely pathogenicrs397515762GRCh37Chr 15, 48800778: 48800778
108FBN1NM_000138.4(FBN1): c.184C> T (p.Arg62Cys)single nucleotide variantPathogenicrs25403GRCh37Chr 15, 48905270: 48905270
109FBN1NM_000138.4(FBN1): c.185G> A (p.Arg62His)single nucleotide variantLikely pathogenicrs145942328GRCh37Chr 15, 48905269: 48905269
110FBN1NM_000138.4(FBN1): c.2188G> A (p.Asp730Asn)single nucleotide variantLikely pathogenicrs199625633GRCh37Chr 15, 48789568: 48789568
111FBN1NM_000138.4(FBN1): c.2242T> C (p.Cys748Arg)single nucleotide variantLikely pathogenicrs397515765GRCh37Chr 15, 48789514: 48789514
112FBN1NM_000138.4(FBN1): c.2341T> C (p.Cys781Arg)single nucleotide variantPathogenicrs397515766GRCh37Chr 15, 48788375: 48788375
113FBN1NM_000138.4(FBN1): c.239G> A (p.Cys80Tyr)single nucleotide variantLikely pathogenicrs397515767GRCh37Chr 15, 48905215: 48905215
114FBN1NM_000138.4(FBN1): c.2407A> T (p.Lys803Ter)single nucleotide variantPathogenicrs397515768GRCh37Chr 15, 48788309: 48788309
115FBN1NM_000138.4(FBN1): c.2412_2413delAT (p.Cys805Terfs)deletionPathogenicrs397515769GRCh37Chr 15, 48788303: 48788304
116FBN1NM_000138.4(FBN1): c.2447G> C (p.Cys816Ser)single nucleotide variantLikely pathogenicrs397515770GRCh37Chr 15, 48787758: 48787758
117FBN1NM_000138.4(FBN1): c.2448C> G (p.Cys816Trp)single nucleotide variantLikely pathogenicrs397515771GRCh37Chr 15, 48787757: 48787757
118FBN1NM_000138.4(FBN1): c.247+1G> Asingle nucleotide variantPathogenicrs25404GRCh37Chr 15, 48905206: 48905206
119FBN1NM_000138.4(FBN1): c.2488T> G (p.Cys830Gly)single nucleotide variantLikely pathogenicrs397515773GRCh37Chr 15, 48787717: 48787717
120FBN1NM_000138.4(FBN1): c.2489G> C (p.Cys830Ser)single nucleotide variantLikely pathogenicrs397515774GRCh37Chr 15, 48787716: 48787716
121FBN1NM_000138.4(FBN1): c.2495G> A (p.Cys832Tyr)single nucleotide variantLikely pathogenicrs397515775GRCh37Chr 15, 48787710: 48787710
122FBN1NM_000138.4(FBN1): c.2496T> G (p.Cys832Trp)single nucleotide variantLikely pathogenicrs397515776GRCh37Chr 15, 48787709: 48787709
123FBN1NM_000138.4(FBN1): c.268_269delGGinsC (p.Gly90Argfs)indelLikely pathogenicrs397515778GRCh37Chr 15, 48903002: 48903003
124FBN1NM_000138.4(FBN1): c.2691dupT (p.Lys898Terfs)duplicationLikely pathogenicrs397515779GRCh37Chr 15, 48786437: 48786438
125FBN1NM_000138.4(FBN1): c.2833delG (p.Ala945Profs)deletionLikely pathogenicrs397515781GRCh37Chr 15, 48784679: 48784679
126FBN1NM_000138.4(FBN1): c.2855-1G> Asingle nucleotide variantPathogenicrs112202622GRCh37Chr 15, 48782276: 48782276
127FBN1NM_000138.4(FBN1): c.299G> T (p.Cys100Phe)single nucleotide variantLikely pathogenicrs397515782GRCh37Chr 15, 48902972: 48902972
128FBN1NM_000138.4(FBN1): c.3012C> G (p.Tyr1004Ter)single nucleotide variantLikely pathogenicrs397515784GRCh37Chr 15, 48782118: 48782118
129FBN1NM_000138.4(FBN1): c.3058A> G (p.Thr1020Ala)single nucleotide variantLikely pathogenicrs111801777GRCh37Chr 15, 48782072: 48782072
130FBN1NM_000138.4(FBN1): c.30_40delCCTGGGATTTA (p.Leu11Argfs)deletionLikely pathogenicrs397515785GRCh37Chr 15, 48936927: 48936937
131FBN1NM_000138.4(FBN1): c.3164G> A (p.Cys1055Tyr)single nucleotide variantPathogenicrs397515786GRCh37Chr 15, 48780609: 48780609
132FBN1NM_000138.4(FBN1): c.3274delG (p.Asp1092Thrfs)deletionPathogenicrs397515788GRCh37Chr 15, 48780373: 48780373
133FBN1NM_000138.4(FBN1): c.3337+1G> Asingle nucleotide variantLikely pathogenicrs397515789GRCh37Chr 15, 48780309: 48780309
134FBN1NM_000138.4(FBN1): c.3392A> G (p.Asn1131Ser)single nucleotide variantLikely pathogenicrs397515790GRCh37Chr 15, 48779580: 48779580
135FBN1NM_000138.4(FBN1): c.3413G> T (p.Cys1138Phe)single nucleotide variantLikely pathogenicrs397515791GRCh37Chr 15, 48779559: 48779559
136FBN1NM_000138.4(FBN1): c.3463+1G> Tsingle nucleotide variantPathogenicrs397515792GRCh37Chr 15, 48779508: 48779508
137FBN1NM_000138.4(FBN1): c.368G> A (p.Cys123Tyr)single nucleotide variantPathogenicrs397515794GRCh37Chr 15, 48892410: 48892410
138FBN1NM_000138.4(FBN1): c.3848A> C (p.Glu1283Ala)single nucleotide variantLikely pathogenicrs397515796GRCh37Chr 15, 48773968: 48773968
139FBN1NM_000138.4(FBN1): c.3886T> C (p.Cys1296Arg)single nucleotide variantLikely pathogenicrs397515797GRCh37Chr 15, 48773930: 48773930
140FBN1NM_000138.4(FBN1): c.4001G> A (p.Gly1334Asp)single nucleotide variantLikely pathogenicrs191989961GRCh37Chr 15, 48766811: 48766811
141FBN1NM_000138.4(FBN1): c.4016G> C (p.Cys1339Ser)single nucleotide variantLikely pathogenicrs397515798GRCh37Chr 15, 48766796: 48766796
142FBN1NM_000138.4(FBN1): c.4048T> A (p.Cys1350Ser)single nucleotide variantLikely pathogenicrs397515799GRCh37Chr 15, 48766764: 48766764
143FBN1NM_000138.4(FBN1): c.4160A> G (p.Tyr1387Cys)single nucleotide variantLikely pathogenicrs397515801GRCh37Chr 15, 48766502: 48766502
144FBN1NM_000138.4(FBN1): c.4222T> C (p.Cys1408Arg)single nucleotide variantPathogenicrs397515802GRCh37Chr 15, 48764862: 48764862
145FBN1NM_000138.4(FBN1): c.4251_4259delTGGCCAGTG (p.Gly1418_Cys1420del)deletionLikely pathogenicrs397515803GRCh37Chr 15, 48764825: 48764833
146FBN1NM_000138.4(FBN1): c.4259G> A (p.Cys1420Tyr)single nucleotide variantLikely pathogenicrs397515804GRCh37Chr 15, 48764825: 48764825
147FBN1NM_000138.4(FBN1): c.4270C> G (p.Pro1424Ala)single nucleotide variantPathogenicrs201273753GRCh37Chr 15, 48764814: 48764814
148FBN1NM_000138.4(FBN1): c.4367G> A (p.Cys1456Tyr)single nucleotide variantLikely pathogenicrs397515805GRCh37Chr 15, 48762923: 48762923
149FBN1NM_000138.4(FBN1): c.4364T> G (p.Ile1455Ser)single nucleotide variantLikely pathogenicrs397515807GRCh37Chr 15, 48762926: 48762926
150FBN1NM_000138.4(FBN1): c.4367G> C (p.Cys1456Ser)single nucleotide variantPathogenicrs397515805GRCh37Chr 15, 48762923: 48762923
151FBN1NM_000138.4(FBN1): c.4406G> C (p.Arg1469Pro)single nucleotide variantLikely pathogenicrs397515808GRCh37Chr 15, 48762884: 48762884
152FBN1NM_000138.4(FBN1): c.4505G> A (p.Cys1502Tyr)single nucleotide variantLikely pathogenicrs397515810GRCh37Chr 15, 48760686: 48760686
153FBN1NM_000138.4(FBN1): c.4531T> C (p.Cys1511Arg)single nucleotide variantLikely pathogenicrs397515811GRCh37Chr 15, 48760660: 48760660
154FBN1NM_000138.4(FBN1): c.4567C> T (p.Arg1523Ter)single nucleotide variantLikely pathogenicrs397515812GRCh37Chr 15, 48760624: 48760624
155FBN1NM_000138.4(FBN1): c.4615C> T (p.Arg1539Ter)single nucleotide variantLikely pathogenicrs111231312GRCh37Chr 15, 48760267: 48760267
156FBN1NM_000138.4(FBN1): c.4781G> A (p.Gly1594Asp)single nucleotide variantLikely pathogenicrs267606798GRCh37Chr 15, 48758022: 48758022
157FBN1NM_000138.4(FBN1): c.4937G> A (p.Cys1646Tyr)single nucleotide variantLikely pathogenicrs397515814GRCh37Chr 15, 48757770: 48757770
158FBN1NM_000138.4(FBN1): c.493C> T (p.Arg165Ter)single nucleotide variantPathogenicrs113905529GRCh37Chr 15, 48888525: 48888525
159FBN1NM_000138.4(FBN1): c.4942G> A (p.Asp1648Asn)single nucleotide variantLikely pathogenicrs397515816GRCh37Chr 15, 48757765: 48757765
160FBN1NM_000138.4(FBN1): c.4955G> A (p.Cys1652Tyr)single nucleotide variantPathogenicrs397515817GRCh37Chr 15, 48756206: 48756206
161FBN1NM_000138.4(FBN1): c.497G> C (p.Cys166Ser)single nucleotide variantLikely pathogenicrs397515818GRCh37Chr 15, 48888521: 48888521
162FBN1NM_000138.4(FBN1): c.5066-1G> Csingle nucleotide variantPathogenicrs397515819GRCh37Chr 15, 48755438: 48755438
163FBN1NM_000138.4(FBN1): c.5251C> T (p.Gln1751Ter)single nucleotide variantLikely pathogenicrs397515820GRCh37Chr 15, 48752488: 48752488
164FBN1NM_000138.4(FBN1): c.529T> C (p.Cys177Arg)single nucleotide variantLikely pathogenicrs363853GRCh37Chr 15, 48888489: 48888489
165FBN1NM_000138.4(FBN1): c.5368C> T (p.Arg1790Ter)single nucleotide variantPathogenicrs113249837GRCh37Chr 15, 48748888: 48748888
166FBN1NM_000138.4(FBN1): c.5437C> T (p.Gln1813Ter)single nucleotide variantLikely pathogenicrs397515821GRCh37Chr 15, 48744867: 48744867
167FBN1NM_000138.4(FBN1): c.5504G> A (p.Cys1835Tyr)single nucleotide variantLikely pathogenicrs111929350GRCh37Chr 15, 48744800: 48744800
168FBN1NM_000138.4(FBN1): c.5512G> T (p.Gly1838Cys)single nucleotide variantPathogenicrs397515823GRCh37Chr 15, 48744792: 48744792
169FBN1NM_000138.4(FBN1): c.5588G> A (p.Gly1863Glu)single nucleotide variantLikely pathogenicrs113086760GRCh37Chr 15, 48741048: 48741048
170FBN1NM_000138.4(FBN1): c.561delT (p.Phe187Leufs)deletionLikely pathogenicrs397515825GRCh37Chr 15, 48829983: 48829983
171FBN1NM_000138.4(FBN1): c.5721C> G (p.Asn1907Lys)single nucleotide variantLikely pathogenicrs397515826GRCh37Chr 15, 48738970: 48738970
172FBN1NM_000138.4(FBN1): c.5747G> A (p.Cys1916Tyr)single nucleotide variantLikely pathogenicrs397515827GRCh37Chr 15, 48738944: 48738944
173FBN1NM_000138.4(FBN1): c.5863C> T (p.Gln1955Ter)single nucleotide variantPathogenicrs363807GRCh37Chr 15, 48737627: 48737627
174FBN1NM_000138.4(FBN1): c.5788+5G> Asingle nucleotide variantPathogenicrs193922219GRCh37Chr 15, 48738898: 48738898
175FBN1NM_000138.4(FBN1): c.5840G> A (p.Cys1947Tyr)single nucleotide variantLikely pathogenicrs397515828GRCh37Chr 15, 48737650: 48737650
176FBN1NM_000138.4(FBN1): c.5869C> T (p.Gln1957Ter)single nucleotide variantLikely pathogenicrs397515829GRCh37Chr 15, 48737621: 48737621
177FBN1NM_000138.4(FBN1): c.6119G> A (p.Cys2040Tyr)single nucleotide variantLikely pathogenicrs397515830GRCh37Chr 15, 48733962: 48733962
178FBN1NM_000138.4(FBN1): c.6289G> T (p.Glu2097Ter)single nucleotide variantLikely pathogenicrs397515831GRCh37Chr 15, 48729989: 48729989
179FBN1NM_000138.4(FBN1): c.6379+1G> Asingle nucleotide variantLikely pathogenicrs397515833GRCh37Chr 15, 48729518: 48729518
180FBN1NM_000138.4(FBN1): c.643C> T (p.Arg215Ter)single nucleotide variantPathogenicrs111687884GRCh37Chr 15, 48829901: 48829901
181FBN1NM_000138.4(FBN1): c.6515_6516delTTinsG (p.Val2172Glyfs)indelLikely pathogenicrs397515834GRCh37Chr 15, 48726891: 48726892
182FBN1NM_000138.4(FBN1): c.6617-9_6617-8delinsAGindelLikely pathogenicrs397515835GRCh37Chr 15, 48725193: 48725194
183FBN1NM_000138.4(FBN1): c.6630T> G (p.Cys2210Trp)single nucleotide variantLikely pathogenicrs397515836GRCh37Chr 15, 48725172: 48725172
184FBN1NM_000138.4(FBN1): c.6656T> C (p.Phe2219Ser)single nucleotide variantLikely pathogenicrs397515837GRCh37Chr 15, 48725146: 48725146
185FBN1NM_000138.4(FBN1): c.6658C> T (p.Arg2220Ter)single nucleotide variantLikely pathogenicrs113001196GRCh37Chr 15, 48725144: 48725144
186FBN1NM_000138.4(FBN1): c.6841C> T (p.Gln2281Ter)single nucleotide variantLikely pathogenicrs397515840GRCh37Chr 15, 48722898: 48722898
187FBN1NM_000138.4(FBN1): c.6920G> A (p.Cys2307Tyr)single nucleotide variantLikely pathogenicrs137854457GRCh37Chr 15, 48720620: 48720620
188FBN1NM_000138.4(FBN1): c.7094G> A (p.Cys2365Tyr)single nucleotide variantLikely pathogenicrs397515845GRCh37Chr 15, 48719874: 48719874
189FBN1NM_000138.4(FBN1): c.7167_7168delCT (p.Cys2390Serfs)deletionPathogenicrs397515846GRCh37Chr 15, 48719800: 48719801
190FBN1NM_000138.4(FBN1): c.7168T> C (p.Cys2390Arg)single nucleotide variantLikely pathogenicrs397515847GRCh37Chr 15, 48719800: 48719800
191FBN1NM_000138.4(FBN1): c.7180C> T (p.Arg2394Ter)single nucleotide variantPathogenicrs397515848GRCh37Chr 15, 48719788: 48719788
192FBN1NM_000138.4(FBN1): c.7453+1G> Tsingle nucleotide variantLikely pathogenicrs397515851GRCh37Chr 15, 48717565: 48717565
193FBN1NM_000138.4(FBN1): c.7497_7498delAT (p.Val2501Terfs)deletionLikely pathogenicrs397515852GRCh37Chr 15, 48714221: 48714222
194FBN1NM_000138.4(FBN1): c.7580A> C (p.Glu2527Ala)single nucleotide variantLikely pathogenicrs397515853GRCh37Chr 15, 48713874: 48713874
195FBN1NM_000138.4(FBN1): c.7606G> A (p.Gly2536Arg)single nucleotide variantPathogenicrs397515854GRCh37Chr 15, 48713848: 48713848
196FBN1NM_000138.4(FBN1): c.7852G> A (p.Gly2618Arg)single nucleotide variantLikely pathogenicrs141133182GRCh37Chr 15, 48707932: 48707932
197FBN1NM_000138.4(FBN1): c.7892G> A (p.Cys2631Tyr)single nucleotide variantLikely pathogenicrs111856492GRCh37Chr 15, 48707892: 48707892
198FBN1NM_000138.4(FBN1): c.7955G> A (p.Cys2652Tyr)single nucleotide variantLikely pathogenicrs397515859GRCh37Chr 15, 48707829: 48707829
199FBN1NM_000138.4(FBN1): c.8267G> A (p.Trp2756Ter)single nucleotide variantPathogenicrs397515861GRCh37Chr 15, 48703536: 48703536
200FBN1NM_000138.4(FBN1): c.8378A> G (p.Tyr2793Cys)single nucleotide variantLikely pathogenicrs397515863GRCh37Chr 15, 48703425: 48703425
201FBN1NM_000138.4(FBN1): c.8483C> G (p.Ser2828Ter)single nucleotide variantLikely pathogenicrs397515864GRCh37Chr 15, 48703320: 48703320
202FBN1NM_000138.4(FBN1): c.8600A> C (p.Gln2867Pro)single nucleotide variantLikely pathogenicrs397515865GRCh37Chr 15, 48703203: 48703203
203FBN1NM_000138.4(FBN1): c.8605_8606delTT (p.Leu2869Alafs)deletionLikely pathogenicrs397515866GRCh37Chr 15, 48703197: 48703198
204FBN1NM_000138.4(FBN1): c.958dupT (p.Tyr320Leufs)duplicationPathogenicrs397515867GRCh37Chr 15, 48818356: 48818357
205TGFBR2NM_003242.5(TGFBR2): c.1471_1482delGTGTTGAGAGAT (p.Val491_Asp494del)deletionLikely pathogenicrs397516493GRCh37Chr 3, 30729950: 30729961

Expression for genes affiliated with Marfan Syndrome

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Expression patterns in normal tissues for genes affiliated with Marfan Syndrome

Search GEO for disease gene expression data for Marfan Syndrome.

Pathways for genes affiliated with Marfan Syndrome

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Pathways related to Marfan Syndrome according to GeneCards/GeneDecks:

(show all 24)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.6COL1A2, DCN
2
Show member pathways
9.5TGFBR2, TGFBR1
39.5TGFBR1, TGFBR2
49.5TGFBR2, TGFBR1
59.5TGFBR1, TGFBR2
69.5TGFBR2, TGFBR1
7
Show member pathways
9.5TGFBR1, TGFBR2
8
Show member pathways
Cell cycle Role of SCF complex in cell cycle regulation60
9.5TGFBR2, TGFBR1
99.5TGFBR1, TGFBR2
10
Show member pathways
9.5TGFBR1, TGFBR2
119.5TGFBR1, TGFBR2
12
Show member pathways
9.5TGFBR2, TGFBR1
13
Show member pathways
9.5TGFBR1, TGFBR2
149.5TGFBR2, TGFBR1
15
Show member pathways
ALK1 pathway37
9.5TGFBR1, TGFBR2
169.5TGFBR2, TGFBR1
179.5TGFBR1, TGFBR2
189.2TGFBR1, DCN, TGFBR2
19
Show member pathways
9.2DCN, TGFBR1, TGFBR2
20
Show member pathways
7.8FBN1, LOX, ELN, LTBP2, FBN2
21
Show member pathways
7.4COL1A2, ELN, TGFBR1, FBN2, FBN1, LTBP2
22
Show member pathways
7.3FBN2, FBN1, TGFBR1, TGFBR2, COL1A2, ELN
23
Show member pathways
7.0FBN2, LTBP2, COL1A2, ELN, LOX, DCN
24
Show member pathways
7.0FBN1, FBN2, LTBP2, TGFBR1, COL1A2, ELN

Compounds for genes affiliated with Marfan Syndrome

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Sources:
44Novoseek, 24HMDB, 2BitterDB, 50PharmGKB, 11DrugBank, 28IUPHAR
See all sources

Compounds related to Marfan Syndrome according to GeneCards/GeneDecks:

(show top 50)    (show all 57)
idCompoundScoreTop Affiliating Genes
1taad4410.2FBN1, TGFBR2
2orcein449.9ELN, FBN1
3cacl2449.8FBN1, ELN
4rsai449.8FBN1, COL1A2
5dermatan44 2410.8DCN, ELN
6beta-aminopropionitrile449.8LOX, ELN
7keratan sulfate449.7DCN, ELN
8alpha-aminoadipic semialdehyde449.7LOX, ELN
9hydroxylysine449.7LOX, ELN
10pentosidine449.7ELN, LOX
11d penicillamine449.6LOX, ELN
12cyanogen bromide449.6COL1A2, ELN
13chondroitin sulfate44 2410.6FBN1, DCN, ELN
14pyridinoline449.5LOX, ELN
15sodium dodecylsulfate449.5ELN, FBN1, DCN
16hyaluronic acid44 2410.5DCN, ELN, FBN1
17heparan sulfate44 2410.5ELN, DCN, FBN1
18desmosine449.5LOX, FBN1, ELN
19amine449.4LOX, FBN1, ELN
20glycosaminoglycan449.3DCN, LOX, ELN
21deoxypyridinoline449.3ELN, LOX
22chloramphenicol44 2 50 1112.3COL1A2, DCN, ELN
23matrigel449.2LOX, DCN, TGFBR1
24alginate449.2DCN, ELN
25manganese44 2410.1TGFBR2, ELN, TGFBR1
26ribonucleic acid449.1TGFBR1, TGFBR2, COL1A2, DCN
27ly294002449.1COL1A2, TGFBR1, TGFBR2
28vitamin d449.1FBN1, COL1A2, TGFBR2, ELN
29hydroxyproline44 24 1111.1LOX, ELN, DCN, FBN1
30ascorbic acid44 2410.1FBN1, LOX, ELN
31lysine449.0ELN, LOX, DCN, FBN1
32oligonucleotide449.0TGFBR1, TGFBR2, COL1A2, DCN
33heparin44 28 24 1112.0ELN, TGFBR1, DCN, FBN1
34bleomycin44 1110.0LOX, ELN, DCN, TGFBR2
35procollagen448.9DCN, LOX, ELN, COL1A2
36glutamate448.9TGFBR2, FBN1, ELN, DCN
37paraffin448.8ELN, LOX, TGFBR1, DCN
38cycloheximide448.8ELN, TGFBR1, TGFBR2, LOX
39magnesium44 24 1110.7TGFBR2, LOX, TGFBR1, ELN
40tgf beta1448.7ELN, TGFBR2, TGFBR1, DCN, FBN1
41alanine448.6ELN, TGFBR2, TGFBR1, FBN1, DCN
42glucose448.5TGFBR2, DCN, TGFBR1, LOX
43dexamethasone44 50 28 1111.5DCN, ELN, LOX, TGFBR2, TGFBR1
44vegf448.4ELN, DCN, TGFBR1, TGFBR2, LOX
45tyrosine448.3COL1A2, LOX, TGFBR2, TGFBR1, DCN, FBN1
46serine448.2COL1A2, TGFBR2, TGFBR1, DCN, FBN1, ELN
47retinoic acid44 249.1FBN1, DCN, TGFBR1, TGFBR2, LOX, ELN
48calcium44 50 24 1110.9FBN2, FBN1, TGFBR2, ELN, LTBP2, COL1A2
49estrogen447.7LOX, COL1A2, ELN, TGFBR2, TGFBR1, DCN
50cysteine447.4FBN1, TGFBR2, LOX, FBN2, ELN, COL1A2

GO Terms for genes affiliated with Marfan Syndrome

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Cellular components related to Marfan Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1transforming growth factor beta receptor homodimeric complexGO:0700229.4TGFBR2, TGFBR1
2microfibrilGO:0015279.3FBN2, FBN1
3extracellular matrixGO:0310129.1LTBP2, COL1A2, DCN, FBN1
4proteinaceous extracellular matrixGO:0055788.4FBN1, ELN, LTBP2, FBN2
5extracellular spaceGO:0056158.2DCN, FBN1, LOX, COL1A2, LTBP2
6extracellular regionGO:0055767.4FBN1, DCN, LOX, ELN, COL1A2, FBN2

Biological processes related to Marfan Syndrome according to GeneCards/GeneDecks:

(show all 20)
idNameGO IDScoreTop Affiliating Genes
1response to cholesterolGO:0707239.8TGFBR2, TGFBR1
2pathway-restricted SMAD protein phosphorylationGO:0603899.8TGFBR1, TGFBR2
3lens development in camera-type eyeGO:0020889.7TGFBR2, TGFBR1
4embryonic cranial skeleton morphogenesisGO:0487019.7TGFBR1, TGFBR2
5response to mechanical stimulusGO:0096129.7DCN, TGFBR2
6peptidyl-threonine phosphorylationGO:0181079.7TGFBR2, TGFBR1
7sequestering of TGFbeta in extracellular matrixGO:0355839.6FBN1, FBN2
8skeletal muscle tissue developmentGO:0075199.5ELN, DCN
9palate developmentGO:0600219.5TGFBR2, TGFBR1
10kidney developmentGO:0018229.5FBN1, DCN, TGFBR1
11peptidyl-serine phosphorylationGO:0181059.4TGFBR2, TGFBR1
12heart developmentGO:0075079.4TGFBR2, TGFBR1, FBN1
13skeletal system developmentGO:0015019.4COL1A2, TGFBR1, FBN1
14blood vessel developmentGO:0015689.4TGFBR2, LOX, COL1A2
15collagen fibril organizationGO:0301999.3TGFBR1, LOX, COL1A2
16negative regulation of transforming growth factor beta receptor signaling pathwayGO:0305129.2TGFBR2, TGFBR1
17transforming growth factor beta receptor signaling pathwayGO:0071799.1LTBP2, COL1A2, TGFBR2, TGFBR1
18wound healingGO:0420609.0DCN, TGFBR1, TGFBR2, LOX
19extracellular matrix disassemblyGO:0226178.2FBN2, FBN1, DCN, ELN, COL1A2
20extracellular matrix organizationGO:0301987.7COL1A2, ELN, LOX, DCN, FBN1, FBN2

Molecular functions related to Marfan Syndrome according to GeneCards/GeneDecks:

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1glycosaminoglycan bindingGO:0055399.7DCN, TGFBR2
2transforming growth factor beta-activated receptor activityGO:0050249.7TGFBR2, TGFBR1
3transforming growth factor beta bindingGO:0504319.6TGFBR2, TGFBR1
4extracellular matrix bindingGO:0508409.4ELN, DCN
5growth factor bindingGO:0198389.3LTBP2, TGFBR1
6SMAD bindingGO:0463329.2TGFBR1, TGFBR2, COL1A2
7extracellular matrix structural constituentGO:0052018.4COL1A2, ELN, FBN1, FBN2
8protein bindingGO:0055157.3TGFBR1, TGFBR2, LOX, ELN, COL1A2, LTBP2

Products for genes affiliated with Marfan Syndrome

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Sources for Marfan Syndrome

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet